Incidental Mutation 'R8069:Tbc1d2'
ID |
620154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d2
|
Ensembl Gene |
ENSMUSG00000039813 |
Gene Name |
TBC1 domain family, member 2 |
Synonyms |
PARIS-1, LOC381605, PARIS1, A630005A06Rik |
MMRRC Submission |
067504-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R8069 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 46649737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 100
(C100G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
[ENSMUST00000107750]
|
AlphaFold |
B1AVH7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084621
AA Change: C100G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000081670 Gene: ENSMUSG00000039813 AA Change: C100G
Domain | Start | End | E-Value | Type |
PH
|
44 |
143 |
1.94e-11 |
SMART |
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
low complexity region
|
165 |
180 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
coiled coil region
|
302 |
333 |
N/A |
INTRINSIC |
coiled coil region
|
362 |
394 |
N/A |
INTRINSIC |
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
Blast:TBC
|
454 |
491 |
3e-14 |
BLAST |
low complexity region
|
526 |
539 |
N/A |
INTRINSIC |
Blast:TBC
|
557 |
591 |
3e-10 |
BLAST |
TBC
|
616 |
834 |
1.63e-60 |
SMART |
coiled coil region
|
869 |
906 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107750
AA Change: C100G
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103379 Gene: ENSMUSG00000039813 AA Change: C100G
Domain | Start | End | E-Value | Type |
PH
|
44 |
143 |
1.94e-11 |
SMART |
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
low complexity region
|
165 |
180 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdhppt |
T |
A |
9: 4,296,823 (GRCm39) |
D261V |
probably benign |
Het |
Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
Adad2 |
T |
C |
8: 120,342,746 (GRCm39) |
S431P |
probably benign |
Het |
Adam18 |
A |
G |
8: 25,118,246 (GRCm39) |
Y557H |
possibly damaging |
Het |
Adam5 |
C |
T |
8: 25,303,541 (GRCm39) |
E129K |
probably damaging |
Het |
Adgra2 |
T |
C |
8: 27,609,251 (GRCm39) |
V824A |
probably benign |
Het |
Armc12 |
A |
T |
17: 28,751,410 (GRCm39) |
K135* |
probably null |
Het |
Aup1 |
C |
T |
6: 83,032,910 (GRCm39) |
Q215* |
probably null |
Het |
AW146154 |
G |
A |
7: 41,129,935 (GRCm39) |
R394C |
probably benign |
Het |
Canx |
T |
G |
11: 50,202,531 (GRCm39) |
D25A |
possibly damaging |
Het |
Ccnf |
A |
G |
17: 24,443,989 (GRCm39) |
L593P |
probably damaging |
Het |
Cd40 |
A |
T |
2: 164,898,695 (GRCm39) |
I41F |
unknown |
Het |
Cdh1 |
C |
T |
8: 107,384,405 (GRCm39) |
A291V |
probably benign |
Het |
Cdhr2 |
A |
T |
13: 54,878,883 (GRCm39) |
I963F |
probably damaging |
Het |
Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
Cep295 |
T |
A |
9: 15,233,882 (GRCm39) |
T2305S |
possibly damaging |
Het |
Cimap1a |
A |
T |
7: 140,430,215 (GRCm39) |
T201S |
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,299,758 (GRCm39) |
R24G |
probably damaging |
Het |
Cnot7 |
T |
C |
8: 40,960,514 (GRCm39) |
N98S |
possibly damaging |
Het |
Defa3 |
T |
G |
8: 21,778,288 (GRCm39) |
C91G |
probably damaging |
Het |
Dennd2c |
T |
C |
3: 103,072,446 (GRCm39) |
F844L |
probably damaging |
Het |
Dido1 |
T |
C |
2: 180,302,705 (GRCm39) |
D1733G |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,263,866 (GRCm39) |
W2116* |
probably null |
Het |
Dnaja3 |
T |
C |
16: 4,502,131 (GRCm39) |
V45A |
probably benign |
Het |
Efcab7 |
T |
A |
4: 99,717,615 (GRCm39) |
S11T |
unknown |
Het |
Enpp2 |
T |
A |
15: 54,710,697 (GRCm39) |
K744N |
probably damaging |
Het |
Fam171b |
CCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGC |
2: 83,643,218 (GRCm39) |
|
probably benign |
Het |
Fdxacb1 |
T |
G |
9: 50,680,135 (GRCm39) |
F107C |
probably damaging |
Het |
Fnbp1 |
A |
T |
2: 30,926,606 (GRCm39) |
Y433N |
probably damaging |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gm15446 |
T |
A |
5: 110,088,306 (GRCm39) |
Y6* |
probably null |
Het |
Gm45140 |
T |
C |
6: 87,796,551 (GRCm39) |
H66R |
|
Het |
Grin3b |
G |
A |
10: 79,812,868 (GRCm39) |
R981Q |
unknown |
Het |
Ipp |
T |
G |
4: 116,368,053 (GRCm39) |
I95M |
probably benign |
Het |
Iqca1 |
A |
G |
1: 89,973,466 (GRCm39) |
F769L |
probably damaging |
Het |
Jkamp |
C |
T |
12: 72,136,832 (GRCm39) |
L67F |
probably damaging |
Het |
Llgl2 |
T |
A |
11: 115,744,112 (GRCm39) |
M773K |
probably damaging |
Het |
Man2b1 |
A |
G |
8: 85,823,674 (GRCm39) |
T973A |
probably benign |
Het |
Mcm2 |
T |
C |
6: 88,869,039 (GRCm39) |
Y271C |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,978,159 (GRCm39) |
S178P |
probably benign |
Het |
Myo7a |
G |
T |
7: 97,732,833 (GRCm39) |
S648* |
probably null |
Het |
Neurl1b |
G |
T |
17: 26,651,201 (GRCm39) |
V158F |
probably damaging |
Het |
Nkain2 |
A |
G |
10: 32,766,034 (GRCm39) |
V142A |
unknown |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Oma1 |
A |
T |
4: 103,176,232 (GRCm39) |
|
probably benign |
Het |
Or10ag58 |
A |
T |
2: 87,265,364 (GRCm39) |
N178Y |
possibly damaging |
Het |
Or5aq7 |
A |
G |
2: 86,938,411 (GRCm39) |
Y107H |
probably damaging |
Het |
Plekhg6 |
T |
C |
6: 125,340,009 (GRCm39) |
T784A |
probably benign |
Het |
Prtg |
T |
C |
9: 72,752,265 (GRCm39) |
I217T |
probably benign |
Het |
Ptx4 |
T |
C |
17: 25,341,753 (GRCm39) |
F76S |
probably damaging |
Het |
Rap1b |
A |
C |
10: 117,657,514 (GRCm39) |
I55S |
probably damaging |
Het |
Sftpd |
T |
C |
14: 40,894,538 (GRCm39) |
T294A |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
Srms |
T |
A |
2: 180,848,751 (GRCm39) |
H363L |
probably damaging |
Het |
Tbc1d13 |
A |
T |
2: 30,037,415 (GRCm39) |
M266L |
probably damaging |
Het |
Tdg |
A |
T |
10: 82,474,627 (GRCm39) |
Q39L |
probably benign |
Het |
Tiam1 |
G |
A |
16: 89,586,146 (GRCm39) |
A1547V |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,858,718 (GRCm39) |
E380G |
possibly damaging |
Het |
Unc13b |
T |
G |
4: 43,177,597 (GRCm39) |
D2808E |
unknown |
Het |
Usp25 |
A |
T |
16: 76,865,943 (GRCm39) |
D287V |
possibly damaging |
Het |
Zfp648 |
A |
T |
1: 154,079,862 (GRCm39) |
Q7L |
probably benign |
Het |
Zfp931 |
T |
C |
2: 177,709,709 (GRCm39) |
R226G |
probably benign |
Het |
Zfyve9 |
T |
A |
4: 108,542,215 (GRCm39) |
E201D |
probably benign |
Het |
|
Other mutations in Tbc1d2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00714:Tbc1d2
|
APN |
4 |
46,649,745 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01748:Tbc1d2
|
APN |
4 |
46,616,306 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01863:Tbc1d2
|
APN |
4 |
46,607,064 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02014:Tbc1d2
|
APN |
4 |
46,649,778 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02025:Tbc1d2
|
APN |
4 |
46,620,713 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02551:Tbc1d2
|
APN |
4 |
46,649,916 (GRCm39) |
missense |
probably benign |
|
IGL02571:Tbc1d2
|
APN |
4 |
46,628,370 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03149:Tbc1d2
|
APN |
4 |
46,637,619 (GRCm39) |
missense |
probably benign |
0.31 |
R0347:Tbc1d2
|
UTSW |
4 |
46,620,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0374:Tbc1d2
|
UTSW |
4 |
46,649,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0522:Tbc1d2
|
UTSW |
4 |
46,649,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Tbc1d2
|
UTSW |
4 |
46,609,003 (GRCm39) |
nonsense |
probably null |
|
R1227:Tbc1d2
|
UTSW |
4 |
46,620,629 (GRCm39) |
missense |
probably benign |
0.00 |
R1464:Tbc1d2
|
UTSW |
4 |
46,606,491 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1464:Tbc1d2
|
UTSW |
4 |
46,606,491 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1658:Tbc1d2
|
UTSW |
4 |
46,614,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Tbc1d2
|
UTSW |
4 |
46,606,419 (GRCm39) |
missense |
probably benign |
0.44 |
R2108:Tbc1d2
|
UTSW |
4 |
46,637,652 (GRCm39) |
missense |
possibly damaging |
0.62 |
R3864:Tbc1d2
|
UTSW |
4 |
46,620,484 (GRCm39) |
missense |
probably benign |
0.01 |
R4475:Tbc1d2
|
UTSW |
4 |
46,609,080 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5112:Tbc1d2
|
UTSW |
4 |
46,606,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R5127:Tbc1d2
|
UTSW |
4 |
46,633,639 (GRCm39) |
intron |
probably benign |
|
R5215:Tbc1d2
|
UTSW |
4 |
46,614,006 (GRCm39) |
missense |
probably benign |
0.42 |
R5475:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R5550:Tbc1d2
|
UTSW |
4 |
46,646,138 (GRCm39) |
missense |
probably benign |
0.00 |
R5558:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R5564:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R5599:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R5600:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R5699:Tbc1d2
|
UTSW |
4 |
46,616,298 (GRCm39) |
missense |
probably benign |
0.31 |
R5866:Tbc1d2
|
UTSW |
4 |
46,637,715 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5909:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R5911:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R5980:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R6194:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R6195:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R6209:Tbc1d2
|
UTSW |
4 |
46,614,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R6211:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R6232:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R6242:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R6261:Tbc1d2
|
UTSW |
4 |
46,637,692 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6273:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R6274:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
R6285:Tbc1d2
|
UTSW |
4 |
46,615,045 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6333:Tbc1d2
|
UTSW |
4 |
46,620,736 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6369:Tbc1d2
|
UTSW |
4 |
46,614,420 (GRCm39) |
missense |
probably benign |
0.41 |
R6912:Tbc1d2
|
UTSW |
4 |
46,649,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R7428:Tbc1d2
|
UTSW |
4 |
46,649,965 (GRCm39) |
missense |
probably benign |
0.02 |
R7775:Tbc1d2
|
UTSW |
4 |
46,637,746 (GRCm39) |
splice site |
probably null |
|
R7824:Tbc1d2
|
UTSW |
4 |
46,637,746 (GRCm39) |
splice site |
probably null |
|
R8135:Tbc1d2
|
UTSW |
4 |
46,609,071 (GRCm39) |
missense |
probably benign |
0.31 |
R8203:Tbc1d2
|
UTSW |
4 |
46,606,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R8271:Tbc1d2
|
UTSW |
4 |
46,649,791 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8690:Tbc1d2
|
UTSW |
4 |
46,615,106 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9025:Tbc1d2
|
UTSW |
4 |
46,607,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R9236:Tbc1d2
|
UTSW |
4 |
46,609,029 (GRCm39) |
missense |
probably benign |
0.08 |
R9622:Tbc1d2
|
UTSW |
4 |
46,609,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Tbc1d2
|
UTSW |
4 |
46,650,007 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Tbc1d2
|
UTSW |
4 |
46,615,037 (GRCm39) |
missense |
probably benign |
0.00 |
X0063:Tbc1d2
|
UTSW |
4 |
46,606,492 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tbc1d2
|
UTSW |
4 |
46,650,016 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAAAAGGAGTCCCTCACCCTTG -3'
(R):5'- GTCCCTAAGAAACTCTGTGGG -3'
Sequencing Primer
(F):5'- AGCTAAGTGGGACAGCTCC -3'
(R):5'- GTATTTAAGTAAGTTTGGCGGCAAAG -3'
|
Posted On |
2020-01-23 |